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Phenotypes Associated with This Genotype
Genotype
MGI:3036453
Allelic
Composition
Slc12a1tm1Tkh/Slc12a1tm1Tkh
Genetic
Background
involves: 129S6/SvEvTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc12a1tm1Tkh mutation (2 available); any Slc12a1 mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• died within 2 weeks of birth
• none survived to weaning unless treated with indomethacin which resulted in about 10% survival past weaning

growth/size/body
• failure to thrive, body weight about 50% that of controls by day 7

hematopoietic system
• increase can be seen in day 1
• very high at day 7
• remains very high (70%) even after indomethacin treatment

homeostasis/metabolism
• blood chemistry is highly abnormal at 7 days
• plasma levels 3X control levels, discrepancy is even greater if normalized to muscle mass
• blood glucose levels are very low
• increased sodium concentration
• surviving mice treated with indomethacin develop very high levels of low molecular weight proteins
• particularly males where levels are 4X female levels
• protein is primarily mouse major urinary protein
• although normal at birth, extracellular fluid volume depletion noticeable in day 1
• after indomethacin treatment turgor returns to normal
• metabolic acidosis
• urinary calcium excretion is 4X controls while plasma calcium levels are low
• 200X increase in plasma renin levels
• after indomethacin treatment, renin levels return to near normal

renal/urinary system
• urinary calcium excretion is 4X controls while plasma calcium levels are low
• bilateral hydronephrosis which is not corrected by indomethacin treatment
• dilation of renal collecting system and atrophy of renal parenchyma
• calcification occurs in tubules of survivors treated with indomethacin
• calcification occurs in tubules of survivors treated with indomethacin
• increased renin expression in the kidney vasculature
• urine is very dilute
• severe renal insufficiency
• very high urine output continues after indomethacin treatment

integument
• poor turgor and increased fluid loss by day 7

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Bartter disease type 1 DOID:0110142 OMIM:601678
J:62224


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
05/14/2019
MGI 6.14
The Jackson Laboratory